Cookies on the NHS website
We've put some small files called cookies on your device to make our site work.
We'd also like to use analytics cookies. These send information about how our site is used to services called Adobe Analytics, Hotjar and Google Analytics. We use this information to improve our site.
Let us know if this is OK. We'll use a cookie to save your choice. You can read more about our cookies before you choose.
I'm OK with analytics cookies Do not use analytics cookies
Search the NHS website
Search
My account
Health A-Z
Live Well
Mental health
Care and support
Pregnancy
Browse
More
Home Health A to Z
Hereditary spastic paraplegia
Hereditary spastic paraplegia is a general term for a group of rare inherited disorders that cause weakness and stiffness in the leg muscles. Symptoms gradually get worse over time.
It's also known as familial spastic paraparesis or Strümpell-Lorrain syndrome.
It's difficult to know exactly how many people have hereditary spastic paraplegia because it's often misdiagnosed.
Estimates range from 1 in 11,000 people to 1 in 77,000 people.
Symptoms of hereditary spastic paraplegia
The severity and progression of symptoms will vary from person to person.
About 90% of people with hereditary spastic paraplegia have what's known as a "pure form" of the condition.
This means their symptoms are mainly confined to lower limb weakness and involuntary spasms and muscle stiffness (spasticity).
The remaining 10% have a complicated or complex form of the condition.
This means they have other symptoms in addition to the muscle weakness and spasticity.
They may have a wide range of symptoms.
Pure hereditary spastic paraplegia
The main symptoms of pure hereditary spastic paraplegia are:
a gradual weakness in the legs
increased muscle tone and stiffness (spasticity)
problems peeing – such as an urgent need to pee, even when the bladder is not full
a lack of sensation in the feet (sometimes)
Children may develop leg stiffness and problems walking, such as stumbling and tripping, particularly on uneven ground.
This is because it's difficult for them to bend their toes upwards as a result of having weak hip muscles.
Some people may eventually need to use a walking cane or a wheelchair to help them get around.
Others may not need to use any type of mobility equipment.
Complicated hereditary spastic paraplegia
In complicated hereditary spastic paraplegia, additional symptoms may include:
nerve damage in the feet or other extremities (peripheral neuropathy)
epilepsy
problems with balance, co-ordination and speech (ataxia)
eye problems – such as damage to the retina (retinopathy) and damage to the optic nerve (optic neuropathy)
dementia
ichthyosis – a condition that causes widespread and persistent thick, dry "fish-scale" skin
learning and developmental problems
hearing loss
speech, breathing or swallowing problems
What causes hereditary spastic paraplegia?
Most people with pure hereditary spastic paraplegia will have inherited a faulty gene from 1 of their parents.
People with the complicated form of the condition will have usually inherited a faulty gene from both parents.
The gene abnormality causes the long nerves in the spine to deteriorate.
These nerves normally control muscle tone and movement in the lower body.
Diagnosing hereditary spastic paraplegia
Hereditary spastic paraplegia is diagnosed after a thorough clinical examination and the identification of typical symptoms.
Other conditions that cause mobility problems and muscle stiffness and weakness, such as multiple sclerosis and cerebral palsy, need to be ruled out first.
A number of specialised tests may be used during diagnosis, including MRI scans of the brain and spine, cerebrospinal fluid analysis, nerve conduction tests and an EMG. 
In some cases, genetic testing may also be needed.
Treating hereditary spastic paraplegia
It's not possible to prevent, slow or reverse hereditary spastic paraplegia, but some of the symptoms can be managed so day-to-day activities become easier.
For example:
muscle relaxants, such as baclofen, tizandine and botulinum (Botox) injections, can be used to help relieve spasticity
regular physiotherapy is important for helping improve and maintain muscle strength and range of movement
occupational therapy can help the person carry out their daily activities more easily and regain as much independence as possible
an ankle-foot orthosis can be worn on the lower leg to help straighten and control the ankle and foot, and improve walking
surgery may occasionally be needed to release tendons or shortened muscles
Complications of hereditary spastic paraplegia
Possible complications of hereditary spastic paraplegia include:
shortening and hardening of the calf muscles – regular physiotherapy may help prevent this
cold feet – this is fairly common and occurs as a result of the deterioration of the nerves in the spine 
extreme tiredness (fatigue) – this may be because of the extra effort needed for walking, and symptoms interrupting sleep
back and knee pain – caused by the muscle weakness and walking problems
stress and depression
Outlook
The outlook for people with hereditary spastic paraplegia varies.
Some people are severely affected and need a wheelchair, while others have mild symptoms and do not need to use a mobility aid.
The condition does not usually affect life expectancy, and most people are able to lead relatively independent and active lives.
National Congenital Anomaly and Rare Disease Registration Service
If you or your child have hereditary spastic paraplegia, your clinical team may pass information about you or your child on to the National Congenital Anomaly and Rare Disease Registration Service (NCARDRS).
The NCARDRS helps scientists identify more effective ways of treating or preventing rare conditions.
You can opt out of the register at any time.
Find out more about the NCARDRS register
Page last reviewed: 08 August 2019
Next review due: 08 August 2022
Support links
Home
Health A to Z
Live Well
Mental health
Care and support
Pregnancy
NHS services
Coronavirus (COVID-19)
NHS App
Find my NHS number
Your health records
About the NHS
Healthcare abroad
Contact us
Other NHS websites
Profile editor login
About us
Accessibility statement
Our policies
Cookies
© Crown copyright